view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPIRE1_chr18_12441512_12663107 | 12491252 | C | CAAGAAAA others(6237): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 328 | 0.0031 | 6244 | c.118 others(6263): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 8/16 | chr18 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236715026 | C | CCACTGAA others(6238): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0295 | 1 | 344 | 0.0029 | 6245 | c.127 others(6262): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MRC1_chr10_17804348_17916164 | 17849122 | T | TAGATATA others(6238): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0018 | a0018c0071 | a0018c0071t0001 | a0018c0071t0001g0169 | 1 | 364 | 0.0028 | 6245 | c.106 others(6262): Show |
MRC1 | ENSG00000260314.3 | transcript | ENST00000569591.3 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MUC6_chr11_1007823_1041718 | 1017981 | T | TGTGATGG others(6242): Show |
conservative_inframe_insertion | MODERATE | HG02132.hp1 | a0001 | a0001c0089 | a0001c0089t0002 | a0001c0089t0002g0201 | 1 | 406 | 0.0025 | 6249 | c.481 others(6258): Show |
p.Ser others(6264): Show |
MUC6 | ENSG00000184956.16 | transcript | ENST00000421673.7 | protein_coding | 31/33 | 4882/8016 | 4819/7320 | 1607/2439 | chr11 | TogoVar | |||
PAK2_chr3_196734857_196837647 | 196811197 | T | TCCTCCCT others(6244): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0011 | 1 | 178 | 0.0056 | 6251 | c.773 others(6266): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(6245): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 370 | 0.0027 | 6252 | c.891 others(6267): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
DCLK2_chr4_150073445_150262438 | 150251268 | C | CCACACCC others(6246): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0070 | 1 | 116 | 0.0086 | 6253 | c.207 others(6272): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1065276 | C | TGTGAACT others(6250): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0208 | 1 | 337 | 0.0030 | 6257 | c.118 others(6276): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | |||||||
VPS13B_chr8_99008274_99882580 | 99780155 | T | TAAAATAA others(6255): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0016 | a0016c0024 | a0016c0024t0005 | a0016c0024t0005g0124 | 1 | 134 | 0.0075 | 6262 | c.777 others(6281): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 42/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137716376 | G | GGGAGGAA others(6256): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0060 | 1 | 170 | 0.0059 | 6263 | c.86- others(6276): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ZSCAN2_chr15_84596009_84628716 | 84597662 | T | TAAGATGT others(6258): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0019 | 1 | 408 | 0.0025 | 6265 | c.-35 others(6276): Show |
ZSCAN2 | ENSG00000176371.14 | transcript | ENST00000546148.6 | protein_coding | 3346 | chr15 | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(6259): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0107 | 1 | 251 | 0.0040 | 6266 | c.-45 others(6275): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
NBPF10_chr1_146059711_146149804 | 146068092 | T | TAACCTGA others(6259): Show |
frameshift_variant others(1): Show |
HIGH | HG01074.hp2 HG01106.hp1 |
a0021 | a0021c0021 | a0021c0021t0003 | a0021c0021t0003g0006 | 2 | 283 | 0.0071 | 6266 | c.109 others(6277): Show |
p.Tyr others(6): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 88/90 | 10980/13030 | 10945/11388 | 3649/3795 | chr1 | TogoVar | |||
NBPF10_chr1_146059711_146149804 | 146068092 | T | TAACCTGA others(6259): Show |
frameshift_variant others(1): Show |
HIGH | HG01256.hp2 HG01258.hp1 |
a0023 | a0023c0024 | a0023c0024t0003 | a0023c0024t0003g0167 a0023c0024t0003g0180 |
2 | 283 | 0.0071 | 6266 | c.109 others(6277): Show |
p.Tyr others(6): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 88/90 | 10980/13030 | 10945/11388 | 3649/3795 | chr1 | TogoVar | |||
NBPF12_chr1_146933324_147001198 | 146967851 | T | TTGTTTCT others(6259): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0015 | 1 | 122 | 0.0082 | 6266 | c.989 others(6281): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF10_chr1_146059711_146149804 | 146068092 | T | TAACCTGA others(6261): Show |
frameshift_variant others(1): Show |
HIGH | NA18954.hp2 | a0036 | a0036c0183 | a0036c0183t0003 | a0036c0183t0003g0202 | 1 | 283 | 0.0035 | 6268 | c.109 others(6279): Show |
p.Tyr others(6): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 88/90 | 10980/13030 | 10945/11388 | 3649/3795 | chr1 | TogoVar | |||
NBPF10_chr1_146059711_146149804 | 146068092 | T | TAACCTGA others(6261): Show |
frameshift_variant others(1): Show |
HIGH | NA19062.hp1 | a0020 | a0020c0229 | a0020c0229t0003 | a0020c0229t0003g0274 | 1 | 283 | 0.0035 | 6268 | c.109 others(6279): Show |
p.Tyr others(6): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 88/90 | 10980/13030 | 10945/11388 | 3649/3795 | chr1 | TogoVar | |||
ZSCAN2_chr15_84596009_84628716 | 84597662 | T | TAAGATGT others(6261): Show |
upstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0003 | a0001c0003t0019 | a0001c0003t0019g0079 | 1 | 408 | 0.0025 | 6268 | c.-35 others(6279): Show |
ZSCAN2 | ENSG00000176371.14 | transcript | ENST00000546148.6 | protein_coding | 3346 | chr15 | TogoVar | |||||||
ZSCAN2_chr15_84596009_84628716 | 84597662 | T | TAAGATGT others(6262): Show |
upstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 408 | 0.0025 | 6269 | c.-35 others(6280): Show |
ZSCAN2 | ENSG00000176371.14 | transcript | ENST00000546148.6 | protein_coding | 3346 | chr15 | TogoVar | |||||||
ZSCAN2_chr15_84596009_84628716 | 84597662 | T | TAAGATGT others(6262): Show |
upstream_gene_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0081 | 1 | 408 | 0.0025 | 6269 | c.-35 others(6280): Show |
ZSCAN2 | ENSG00000176371.14 | transcript | ENST00000546148.6 | protein_coding | 3346 | chr15 | TogoVar | |||||||
ZSCAN2_chr15_84596009_84628716 | 84597662 | T | TAAGATGT others(6262): Show |
upstream_gene_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0006 | 1 | 408 | 0.0025 | 6269 | c.-35 others(6280): Show |
ZSCAN2 | ENSG00000176371.14 | transcript | ENST00000546148.6 | protein_coding | 3346 | chr15 | TogoVar | |||||||
NBPF10_chr1_146059711_146149804 | 146068092 | T | TAACCTGA others(6263): Show |
stop_gained others(1): Show |
HIGH | HG00741.hp2 HG02735.hp2 |
a0027a0064 | a0027c0185a0064c0189 | a0027c0185t0003a0064c0189t0003 | a0027c0185t0003g0203 a0064c0189t0003g0186 |
2 | 283 | 0.0071 | 6270 | c.109 others(6281): Show |
p.Gly others(6285): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 88/90 | 10980/13030 | 10945/11388 | 3649/3795 | chr1 | TogoVar | |||
NBPF10_chr1_146059711_146149804 | 146068092 | T | TAACCTGA others(6263): Show |
stop_gained others(1): Show |
HIGH | HG03710.hp2 | a0036 | a0036c0154 | a0036c0154t0015 | a0036c0154t0015g0171 | 1 | 283 | 0.0035 | 6270 | c.109 others(6281): Show |
p.Gly others(6285): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 88/90 | 10980/13030 | 10945/11388 | 3649/3795 | chr1 | TogoVar | |||
NBPF10_chr1_146059711_146149804 | 146068092 | T | TAACCTGA others(6263): Show |
stop_gained others(1): Show |
HIGH | HG00558.hp2 HG02132.hp1 HG02155.hp2 |
a0004a0027 | a0004c0153a0004c0170a0027c0184 | a0004c0153t0003a0004c0170t0008a0027c0184t0016 | a0004c0153t0003g0196 a0004c0170t0008g0164 a0027c0184t0016g0182 |
3 | 283 | 0.0106 | 6270 | c.109 others(6281): Show |
p.Gly others(6285): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 88/90 | 10980/13030 | 10945/11388 | 3649/3795 | chr1 | TogoVar | |||
ZSCAN2_chr15_84596009_84628716 | 84597662 | T | TAAGATGT others(6263): Show |
upstream_gene_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 408 | 0.0025 | 6270 | c.-35 others(6281): Show |
ZSCAN2 | ENSG00000176371.14 | transcript | ENST00000546148.6 | protein_coding | 3346 | chr15 | TogoVar | |||||||
ZSCAN2_chr15_84596009_84628716 | 84597662 | T | TAAGATGT others(6263): Show |
upstream_gene_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 408 | 0.0025 | 6270 | c.-35 others(6281): Show |
ZSCAN2 | ENSG00000176371.14 | transcript | ENST00000546148.6 | protein_coding | 3346 | chr15 | TogoVar | |||||||
ZSCAN2_chr15_84596009_84628716 | 84597662 | T | TAAGATGT others(6263): Show |
upstream_gene_variant | MODIFIER | HG01993.hp1 HG02683.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 a0001c0001t0001g0082 |
2 | 408 | 0.0049 | 6270 | c.-35 others(6281): Show |
ZSCAN2 | ENSG00000176371.14 | transcript | ENST00000546148.6 | protein_coding | 3346 | chr15 | TogoVar | |||||||
ZSCAN2_chr15_84596009_84628716 | 84597662 | T | TAAGATGT others(6263): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 HG03195.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0006 a0001c0003t0001g0025 |
2 | 408 | 0.0049 | 6270 | c.-35 others(6281): Show |
ZSCAN2 | ENSG00000176371.14 | transcript | ENST00000546148.6 | protein_coding | 3346 | chr15 | TogoVar | |||||||
ZSCAN2_chr15_84596009_84628716 | 84597662 | T | TAAGATGT others(6264): Show |
upstream_gene_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 408 | 0.0025 | 6271 | c.-35 others(6282): Show |
ZSCAN2 | ENSG00000176371.14 | transcript | ENST00000546148.6 | protein_coding | 3346 | chr15 | TogoVar | |||||||
ZSCAN2_chr15_84596009_84628716 | 84597662 | T | TAAGATGT others(6264): Show |
upstream_gene_variant | MODIFIER | HG02004.hp2 HG02273.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0025 |
2 | 408 | 0.0049 | 6271 | c.-35 others(6282): Show |
ZSCAN2 | ENSG00000176371.14 | transcript | ENST00000546148.6 | protein_coding | 3346 | chr15 | TogoVar | |||||||
ZSCAN2_chr15_84596009_84628716 | 84597662 | T | TAAGATGT others(6264): Show |
upstream_gene_variant | MODIFIER | HG01943.hp2 HG03704.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 2 | 408 | 0.0049 | 6271 | c.-35 others(6282): Show |
ZSCAN2 | ENSG00000176371.14 | transcript | ENST00000546148.6 | protein_coding | 3346 | chr15 | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132364472 | T | CACACCCA others(6265): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 290 | 0.0035 | 6272 | c.129 others(6289): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | chr10 | TogoVar | |||||||
NBPF10_chr1_146059711_146149804 | 146068092 | T | TAACCTGA others(6265): Show |
frameshift_variant others(1): Show |
HIGH | NA20129.hp1 | a0004 | a0004c0190 | a0004c0190t0003 | a0004c0190t0003g0199 | 1 | 283 | 0.0035 | 6272 | c.109 others(6283): Show |
p.Tyr others(6): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 88/90 | 10980/13030 | 10945/11388 | 3649/3795 | chr1 | TogoVar | |||
NBPF10_chr1_146059711_146149804 | 146068092 | T | TAACCTGA others(6265): Show |
frameshift_variant others(1): Show |
HIGH | NA18968.hp2 | a0004 | a0004c0178 | a0004c0178t0003 | a0004c0178t0003g0165 | 1 | 283 | 0.0035 | 6272 | c.109 others(6283): Show |
p.Tyr others(6): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 88/90 | 10980/13030 | 10945/11388 | 3649/3795 | chr1 | TogoVar | |||
RBFOX2_chr22_35733736_36033824 | 35735298 | T | TCCACCTG others(6265): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0095 | 1 | 120 | 0.0083 | 6272 | c.*89 others(6283): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3437 | chr22 | TogoVar | |||||||
ZSCAN2_chr15_84596009_84628716 | 84597662 | T | TAAGATGT others(6265): Show |
upstream_gene_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 408 | 0.0025 | 6272 | c.-35 others(6283): Show |
ZSCAN2 | ENSG00000176371.14 | transcript | ENST00000546148.6 | protein_coding | 3346 | chr15 | TogoVar | |||||||
ZSCAN2_chr15_84596009_84628716 | 84597662 | T | TAAGATGT others(6266): Show |
upstream_gene_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 408 | 0.0025 | 6273 | c.-35 others(6284): Show |
ZSCAN2 | ENSG00000176371.14 | transcript | ENST00000546148.6 | protein_coding | 3346 | chr15 | TogoVar | |||||||
NBPF10_chr1_146059711_146149804 | 146068092 | T | TAACCTGA others(6267): Show |
frameshift_variant others(1): Show |
HIGH | HG03195.hp1 NA20752.hp2 |
a0004a0134 | a0004c0177a0134c0179 | a0004c0177t0003a0134c0179t0003 | a0004c0177t0003g0187 a0134c0179t0003g0190 |
2 | 283 | 0.0071 | 6274 | c.109 others(6285): Show |
p.Tyr others(6): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 88/90 | 10980/13030 | 10945/11388 | 3649/3795 | chr1 | TogoVar | |||
NBPF10_chr1_146059711_146149804 | 146068092 | T | TAACCTGA others(6267): Show |
frameshift_variant others(1): Show |
HIGH | HG04199.hp1 | a0154 | a0154c0186 | a0154c0186t0003 | a0154c0186t0003g0172 | 1 | 283 | 0.0035 | 6274 | c.109 others(6285): Show |
p.Tyr others(6): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 88/90 | 10980/13030 | 10945/11388 | 3649/3795 | chr1 | TogoVar | |||
NBPF10_chr1_146059711_146149804 | 146068092 | T | TAACCTGA others(6269): Show |
stop_gained others(1): Show |
HIGH | NA19240.hp1 | a0196 | a0196c0228 | a0196c0228t0007 | a0196c0228t0007g0218 | 1 | 283 | 0.0035 | 6276 | c.109 others(6287): Show |
p.Gly others(6291): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 88/90 | 10980/13030 | 10945/11388 | 3649/3795 | chr1 | TogoVar | |||
EHMT1_chr9_137614005_137841127 | 137716460 | T | TGGGGGAG others(6270): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 170 | 0.0059 | 6277 | c.86- others(6290): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870129 | C | CACCACAC others(6270): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 338 | 0.0030 | 6277 | c.*35 others(6296): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NBPF10_chr1_146059711_146149804 | 146068092 | T | TAACCTGA others(6271): Show |
frameshift_variant others(1): Show |
HIGH | HG03130.hp2 | a0133 | a0133c0227 | a0133c0227t0007 | a0133c0227t0007g0217 | 1 | 283 | 0.0035 | 6278 | c.109 others(6289): Show |
p.Tyr others(6): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 88/90 | 10980/13030 | 10945/11388 | 3649/3795 | chr1 | TogoVar | |||
PHRF1_chr11_571470_617222 | 585658 | T | TTGAGGTA others(6272): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0265 | 1 | 279 | 0.0036 | 6279 | c.215 others(6296): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BOLL_chr2_197721890_197790319 | 197747651 | T | TGATAGTA others(6273): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 328 | 0.0031 | 6280 | c.730 others(6297): Show |
BOLL | ENSG00000152430.19 | transcript | ENST00000392296.9 | protein_coding | 9/10 | chr2 | TogoVar | |||||||
YBEY_chr21_46281342_46302751 | 46294687 | A | AGTGGGGA others(6273): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0285 | 1 | 404 | 0.0025 | 6280 | c.340 others(6297): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137716520 | G | GGGGAGGA others(6274): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0054 | 1 | 170 | 0.0059 | 6281 | c.86- others(6292): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
FAM120B_chr6_170301758_170412067 | 170377914 | C | CGCCCGGG others(6276): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0146 | 1 | 289 | 0.0035 | 6283 | c.228 others(6304): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FAM120B_chr6_170301758_170412067 | 170377914 | C | CGCCCGGG others(6276): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0125 | 1 | 289 | 0.0035 | 6283 | c.228 others(6304): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RBFOX2_chr22_35733736_36033824 | 35735298 | T | TCCACCTG others(6283): Show |
downstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0041 | 1 | 120 | 0.0083 | 6290 | c.*89 others(6301): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3437 | chr22 | TogoVar |